Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 11 | 61897650 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 11 | 61944659 | regulatory region variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 56094615 | downstream gene variant | T/C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 6 | 32103240 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
4 | 0.925 | 0.080 | 3 | 3088537 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 61969772 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
29 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 3 | 192376186 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 6 | 10983738 | 3 prime UTR variant | C/A;G;T | snv | 0.54; 5.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.925 | 0.120 | 2 | 27617773 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 6 | 11074114 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 62005870 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1.000 | 0.040 | 11 | 61857413 | intron variant | G/C;T | snv | 0.81; 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 11 | 61753196 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 6 | 10959925 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 6 | 10959940 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 11 | 61870572 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 60939535 | intron variant | T/C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 11 | 61885042 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 20 | 33894826 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 11 | 61872726 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 103408045 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 18 | 49629266 | TF binding site variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 10964788 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 6 | 10980820 | 3 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |